Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Bone Diseases (D001847)
..Starting node ..Bone Diseases, Developmental (D001848)
Child Nodes:
........Acro-Osteolysis (D030981) 7
........Acrocapitofemoral Dysplasia (C564334)
........Acromesomelic dysplasia, Maroteaux type (C535661)
........Acromicric dysplasia (C535662) 1
........Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
........Angel shaped phalangoepiphyseal dysplasia (C536361)
........Baby Rattle Pelvis Dysplasia (C565282)
........Basal Cell Nevus Syndrome (D001478) 1
........Battaglia Neri syndrome (C537662)
........Bazopoulou Kyrkanidou syndrome (C537664)
........Bellini Chiumello Rimoldi syndrome (C535652)
........Blount disease (C536237)
........Bone Dysplasia, Lethal, Holmgren Type (C565896)
........Brachioskeletogenital syndrome (C537084)
........Brachymesomelia renal syndrome (C537096)
........Brittle Bone Disorder (C565842)
........Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
........CATSHL syndrome (C537975)
........Cervical Vertebral Dysplasia (C566140)
........Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
........Craniolenticulosutural Dysplasia (C564332)
........Deafness conductive ptosis skeletal anomalies (C535993)
........Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
........Diaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169)
........Doughnut Lesions of Skull, Familial (C565089)
........Dwarfism (D004392) 155
........Dysostoses (D004413) 262
........Dysplasia epiphysealis hemimelica (C537997)
........Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
........Fountain syndrome (C537270)
........Fryns Hofkens Fabry syndrome (C538069)
........Funnel Chest (D005660) 4
........Gigantism (D005877) 1
........Gracile bone dysplasia (C537291)
........Gurrieri Sammito Bellussi syndrome (C537625)
........Hall Riggs mental retardation syndrome (C535623)
........Ischiopatellar dysplasia (C535540)
........Kantaputra Gorlin syndrome (C535547)
........KBG syndrome (C537015)
........Kozlowski Rafinski Klicharska syndrome (C537509)
........Kozlowski Warren Fisher syndrome (C537614)
........Kyphomelic dysplasia (C538128)
........Larsen syndrome, recessive type (C537874)
........Leg Length Inequality (D007870)
........Lenz Majewski hyperostotic dwarfism (C537115)
........Lissencephaly Type III and Bone Dysplasia (C563383)
........Macroepiphyseal dysplasia, McAlister Coe type (C537721)
........Marfan Syndrome (D008382) 9
........Marshall-Smith syndrome (C536026)
........Membranous Cranial Ossification, Delayed (C563592)
........Mesomelic Dysplasia, Camera Type (C567503)
........Mesomelic Limb Shortening and Bowing (C565404)
........Mononen Karnes Senac syndrome (C535914)
........Osteochondrodysplasias (D010009) 367
........Osteofibrous Dysplasia (C563276)
........Osteolysis, Essential (D010015) 1
........Osteosclerosis with ichthyosis and premature ovarian failure (C536064)
........Patterson pseudoleprechaunism syndrome (C536310)
........Pectus Carinatum (D066166)
........Platybasia (D010985) 1
........Pointer syndrome (C536323)
........Prenatal Bowing (C564873)
........Proteus Syndrome (D016715) 1
........Radius absent anogenital anomalies (C535281)
........Rhizomelic dysplasia Patterson Lowry type (C537609)
........Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
........Rhizomelic syndrome (C537611)
........Roifman-Chitayat Syndrome (C567641)
........Santos Syndrome (C567819)
........Schwartz-Lelek syndrome (C537519)
........Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities (C566544)
........Skeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
........Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
........Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification (C566687)
........Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
........Spondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
........Spranger Schinzel Myers syndrome (C535801)
........Stoll Levy Francfort syndrome (C537498)
........Trichoodontoonychial Dysplasia (C564760)
........Ulna hypoplasia with mental retardation (C536934)
........Vertebral body fusion overgrowth (C536543)
........Weill-Marchesani Syndrome (D056846)
........Weismann Netter syndrome (C537082)
........Wiedemann Oldigs Oppermann syndrome (C536705)
Sister Nodes:
..Bone Cysts (D001845) 11
..Bone Diseases, Developmental (D001848) 832
..Bone Diseases, Endocrine (D001849) 40
..Bone Diseases, Infectious (D001850) 22
..Bone Diseases, Metabolic (D001851) 67
..Bone Malalignment (D017760) 7
..Bone Neoplasms (D001859) 29
..Bone Resorption (D001862) 24
..Borrone Di Rocco Crovato syndrome (C536577)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..Coxa Valga (D060906)
..Eosinophilic Granuloma (D004803)
..Epiphyses, Slipped (D004839) 1
..Expansile Bone Lesions (C566375)
..Genu Valgum (D056304) 3
..Genu Varum (D056305) 1
..Gerodermia osteodysplastica (C537799)
..Ho Kaufman Mcalister syndrome (C538325)
..Hyperostosis (D015576) 40
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..Kennerknecht Vogel syndrome (C537019)
..Osteitis (D010000)
..Osteitis Deformans (D010001) 5
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteoarthropathy, Secondary Hypertrophic (D010005)
..Osteochondritis (D010007) 6
..Osteochondrosis (D055034) 4
..Osteonecrosis (D010020) 6
..Sclerosing bone dysplasia mental retardation (C537523)
..Spinal Diseases (D013122) 72
..Tricho-dento-osseous syndrome 1 (C536550)
..Trochlea of the Humerus, Aplasia of (C566022)
..Whyte Murphy syndrome (C536054)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1360
Name:	Bone Diseases, Developmental
Definition:
Alternative IDs:
ParentIDs:	MESH:D001847
TreeNumbers:	C05.116.099
Synonyms:	Bone Disease, Developmental \|Bone Dysplasia \|Bone Dysplasias \|Developmental Bone Disease \|Developmental Bone Diseases \|Dysplasia, Bone \|Dysplasias, Bone
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: D001848 MeSH: D001848 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants